HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56975126A>T , CM000678.2:g.56975126A>T | GRCh38 |
NC_000016.9:g.57009038A>T , CM000678.1:g.57009038A>T | GRCh37 |
NC_000016.8:g.55566539A>T | NCBI36 |
NG_008952.1:g.18204A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000200676.8:c.956A>T MANE Select | ENSP00000200676.3:p.Asn319Ile | |
ENST00000200676.7:c.956A>T | ENSP00000200676.3:p.Asn319Ile | |
ENST00000379780.6:c.776A>T | ENSP00000369106.2:p.Asn259Ile | |
ENST00000566128.1:c.761A>T | ENSP00000456276.1:p.Asn254Ile | |
NM_000078.2:c.956A>T | NP_000069.2:p.Asn319Ile | |
NM_001286085.1:c.776A>T | NP_001273014.1:p.Asn259Ile | |
NM_000078.3:c.956A>T MANE Select | NP_000069.2:p.Asn319Ile | |
NM_001286085.2:c.776A>T | NP_001273014.1:p.Asn259Ile |